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Results: 1-25 | 26-50 | 51-72
Results: 1-25/72
PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY
Authors: MATTHIJS G SCHOLLEN E CASSIMAN JJ CORMIERDAIRE V JAEKEN J VANSCHAFTINGEN E
Citation: G. Matthijs et al., PRENATAL-DIAGNOSIS IN CDG1 FAMILIES - BEWARE OF HETEROGENEITY, European journal of human genetics, 6(2), 1998, pp. 99-104
IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER
Authors: MATTHIJS G SCHOLLEN E SAUDUBRAY JM DELONLAY P DIONISIVICI C BERTINI E HENRI H CASSIMAN JJ JAEKEN J VANSCHAFTINGEN E
Citation: G. Matthijs et al., IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER, European journal of human genetics, 6, 1998, pp. 5006-5006
ABNORMAL SURFACE EXPRESSION OF SIALOGLYCANS ON B-LYMPHOCYTE CELL-LINES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME-I-A (CDGS-I-A)
Authors: BERGMANN M GROSS HJ ABDELATTY F MOLLER P JAEKEN J SCHWARTZALBIEZ R
Citation: M. Bergmann et al., ABNORMAL SURFACE EXPRESSION OF SIALOGLYCANS ON B-LYMPHOCYTE CELL-LINES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME-I-A (CDGS-I-A), Glycobiology, 8(10), 1998, pp. 963-972
NORMAL EARLY DEVELOPMENT FOLLOWED BY REGRESSION IN 2 SIBLINGS AFFECTED BY CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I WITH NORMAL ACTIVITIES OF PHOSPHOMANNOMUTASE AND PHOSPHOMANNOSE ISOMERASE
Authors: VANCOSTER RN ROELENS FA ESPEEL MF JAEKEN J
Citation: Rn. Vancoster et al., NORMAL EARLY DEVELOPMENT FOLLOWED BY REGRESSION IN 2 SIBLINGS AFFECTED BY CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I WITH NORMAL ACTIVITIES OF PHOSPHOMANNOMUTASE AND PHOSPHOMANNOSE ISOMERASE, Annals of neurology, 44(3), 1998, pp. 36-36
HYDROCEPHALUS IN NONKETOTIC HYPERGLYCINEMIA
Authors: RUTLEDGE SL KISHNANI P OAKES J MILLER C LAGAE L JAEKEN J VANHOVE JLK
Citation: Sl. Rutledge et al., HYDROCEPHALUS IN NONKETOTIC HYPERGLYCINEMIA, Annals of neurology, 44(3), 1998, pp. 58-58
BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY
Authors: DEKONING TJ DURAN M DORLAND L GOOSKENS R VANSCHAFTINGEN E JAEKEN J BLAU N BERGER R POLLTHE BT
Citation: Tj. Dekoning et al., BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, Annals of neurology, 44(2), 1998, pp. 261-265
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A NEW CAUSE OF DYSOSTOSIS MULTIPLEX
Authors: GAREL C BAUMANN C BESNARD M OGIER H JAEKEN J HASSAN M
Citation: C. Garel et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I - A NEW CAUSE OF DYSOSTOSIS MULTIPLEX, Skeletal radiology, 27(1), 1998, pp. 43-45
3-YEAR-OLD GIRL WITH RICKETS AND HEPATOMEGALY
Authors: PROESMANS W DECOSTER J BREYSEM L JAEKEN J
Citation: W. Proesmans et al., 3-YEAR-OLD GIRL WITH RICKETS AND HEPATOMEGALY, European journal of pediatrics, 157(1), 1998, pp. 83-84
DETERMINATION OF GLYCAN STRUCTURES AND MOLECULAR MASSES OF THE GLYCOVARIANTS OF SERUM TRANSFERRIN FROM A PATIENT WITH CARBOHYDRATE-DEFICIENT SYNDROME TYPE-II
Authors: CODDEVILLE B CARCHON H JAEKEN J BRIAND G SPIK G
Citation: B. Coddeville et al., DETERMINATION OF GLYCAN STRUCTURES AND MOLECULAR MASSES OF THE GLYCOVARIANTS OF SERUM TRANSFERRIN FROM A PATIENT WITH CARBOHYDRATE-DEFICIENT SYNDROME TYPE-II, Glycoconjugate journal, 15(3), 1998, pp. 265-273
LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY)
Authors: BARONE R CARCHON H JANSEN E PAVONE L FIUMARA A BOSSHARD NU GITZELMANN R JAEKEN J
Citation: R. Barone et al., LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY), Journal of inherited metabolic disease, 21(2), 1998, pp. 167-172
PHOSPHOMANNOMUTASE DEFICIENCY AND NORMAL PUBERTAL DEVELOPMENT
Authors: ARTIGAS J CARDO E PINEDA M NOSAS R JAEKEN J
Citation: J. Artigas et al., PHOSPHOMANNOMUTASE DEFICIENCY AND NORMAL PUBERTAL DEVELOPMENT, Journal of inherited metabolic disease, 21(1), 1998, pp. 78-79
A NOVEL CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME CHARACTERIZED BYA DEFICIENCY IN GLUCOSYLATION OF THE DOLICHOL-LINKED OLIGOSACCHARIDE
Authors: BURDA P BORSIG L DERIJKVANANDEL J WEVERS R JAEKEN J CARCHON H BERGER EG AEBI M
Citation: P. Burda et al., A NOVEL CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME CHARACTERIZED BYA DEFICIENCY IN GLUCOSYLATION OF THE DOLICHOL-LINKED OLIGOSACCHARIDE, The Journal of clinical investigation, 102(4), 1998, pp. 647-652
PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION
Authors: JAEKEN J MATTHIJS G SAUDUBRAY JM DIONISIVICI C BERTINI E DELONLAY P HENRI H CARCHON H SCHOLLEN E VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION, American journal of human genetics, 62(6), 1998, pp. 1535-1539
LACK OF HOMOZYGOTES FOR THE MOST FREQUENT DISEASE ALLELE IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A
Authors: MATTHIJS G SCHOLLEN E VANSCHAFTINGEN E CASSIMAN JJ JAEKEN J
Citation: G. Matthijs et al., LACK OF HOMOZYGOTES FOR THE MOST FREQUENT DISEASE ALLELE IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A, American journal of human genetics, 62(3), 1998, pp. 542-550
MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME)
Authors: MATTHIJS G SCHOLLEN E PARDON E VEIGADACUNHA M JAEKEN J CASSIMAN JJ VANSCHAFTINGEN E
Citation: G. Matthijs et al., MUTATIONS IN PMM2, A PHOSPHOMANNOMUTASE GENE ON CHROMOSOME 16P13, IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN TYPE-I SYNDROME (JAEKEN-SYNDROME), Nature genetics, 16(1), 1997, pp. 88-92
HYPOGLYCOSYLATION OF A BRAIN GLYCOPROTEIN (BETA-TRACE PROTEIN) IN CDGSYNDROMES DUE TO PHOSPHOMANNOMUTASE DEFICIENCY AND N-ACETYLGLUCOSAMINYL-TRANSFERASE-II DEFICIENCY
Authors: POHL S HOFFMANN A RUDIGER A NIMTZ M JAEKEN J CONRADT HS
Citation: S. Pohl et al., HYPOGLYCOSYLATION OF A BRAIN GLYCOPROTEIN (BETA-TRACE PROTEIN) IN CDGSYNDROMES DUE TO PHOSPHOMANNOMUTASE DEFICIENCY AND N-ACETYLGLUCOSAMINYL-TRANSFERASE-II DEFICIENCY, Glycobiology, 7(8), 1997, pp. 1077-1084
HARDIKAR-SYNDROME - A NEW SYNDROME WITH CLEFT LIP PALATE, PIGMENTARY RETINOPATHY AND CHOLESTASIS/
Authors: COOLS F JAEKEN J
Citation: F. Cools et J. Jaeken, HARDIKAR-SYNDROME - A NEW SYNDROME WITH CLEFT LIP PALATE, PIGMENTARY RETINOPATHY AND CHOLESTASIS/, American journal of medical genetics, 71(4), 1997, pp. 472-474
ADENYLOSUCCINASE DEFICIENCY PRESENTING WITH EPILEPSY IN EARLY INFANCY
Authors: MAASWINKELMOOIJ PD LAAN LAEM ONKENHOUT W BROUWER OF JAEKEN J POORTHUIS BJHM
Citation: Pd. Maaswinkelmooij et al., ADENYLOSUCCINASE DEFICIENCY PRESENTING WITH EPILEPSY IN EARLY INFANCY, Journal of inherited metabolic disease, 20(4), 1997, pp. 606-607
PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS
Authors: JAEKEN J ARTIGAS J BARONE R FIUMARA A DEKONING TJ POLLTHE BT DERIJKVANANDEL JF HOFFMANN GF ASSMANN B MAYATEPEK E PINEDA M VILASECA MA SAUDUBRAY JM SCHLUTER B WEVERS R VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS, Journal of inherited metabolic disease, 20(3), 1997, pp. 447-449
INBORN-ERRORS OF THE PURINE NUCLEOTIDE CYCLE - ADENYLOSUCCINASE DEFICIENCY
Authors: VANDENBERGHE G VINCENT MF JAEKEN J
Citation: G. Vandenberghe et al., INBORN-ERRORS OF THE PURINE NUCLEOTIDE CYCLE - ADENYLOSUCCINASE DEFICIENCY, Journal of inherited metabolic disease, 20(2), 1997, pp. 193-202
PHOSPHOSERINE PHOSPHATASE DEFICIENCY IN A PATIENT WITH WILLIAMS-SYNDROME
Authors: JAEKEN J DETHEUX M FRYNS JP COLLET JF ALLIET P VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOSERINE PHOSPHATASE DEFICIENCY IN A PATIENT WITH WILLIAMS-SYNDROME, Journal of Medical Genetics, 34(7), 1997, pp. 594-596
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I
Authors: JAEKEN J MATTHIJS G BARONE R CARCHON H
Citation: J. Jaeken et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME TYPE-I, Journal of Medical Genetics, 34(1), 1997, pp. 73-76
MICROHETEROGENEITY OF SERUM GLYCOPROTEINS AND THEIR LIVER PRECURSORS IN PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I -APPARENT DEFICIENCIES IN CLUSTERIN AND SERUM AMYLOID-P
Authors: HENRY H TISSOT JD MESSERLI B MARKERT M MUNTAU A SKLADAL D SPERL W JAEKEN J WEIDINGER S HEYNE K BACHMANN C
Citation: H. Henry et al., MICROHETEROGENEITY OF SERUM GLYCOPROTEINS AND THEIR LIVER PRECURSORS IN PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I -APPARENT DEFICIENCIES IN CLUSTERIN AND SERUM AMYLOID-P, The Journal of laboratory and clinical medicine, 129(4), 1997, pp. 412-421
AMINO-ACID NEUROTRANSMISSION AND INITIATION OF PUBERTY - EVIDENCE FROM NONKETOTIC HYPERGLYCINEMIA IN A FEMALE INFANT AND GONADOTROPIN-RELEASING-HORMONE SECRETION BY RAT HYPOTHALAMIC EXPLANTS
Authors: BOURGUIGNON JP JAEKEN J GERARD A DEZEGHER F
Citation: Jp. Bourguignon et al., AMINO-ACID NEUROTRANSMISSION AND INITIATION OF PUBERTY - EVIDENCE FROM NONKETOTIC HYPERGLYCINEMIA IN A FEMALE INFANT AND GONADOTROPIN-RELEASING-HORMONE SECRETION BY RAT HYPOTHALAMIC EXPLANTS, The Journal of clinical endocrinology and metabolism, 82(6), 1997, pp. 1899-1903
GENETIC-DISORDERS AND CEREBELLAR STRUCTURAL ABNORMALITIES IN CHILDHOOD
Authors: RAMAEKERS VT HEIMANN G REUL J THRON A JAEKEN J
Citation: Vt. Ramaekers et al., GENETIC-DISORDERS AND CEREBELLAR STRUCTURAL ABNORMALITIES IN CHILDHOOD, Brain, 120, 1997, pp. 1739-1751
Risultati: 1-25 | 26-50 | 51-72